Newborn Screening Gets a Boost in North Carolina

By Nicole McEwen

On May 30, North Carolina leaders announced the expansion of the state’s newborn screening panel to include three rare diseases — Pompe disease, Mucopolysaccharidosis type 1 (MPS 1) and X-linked Adrenoleukodystropy (X-ALD). These same leaders are also committed to improving the process for adding conditions to the program in the future. Because of my role with Taylor’s Tale, I had an opportunity to attend the press conference in Raleigh. Here’s my take on the news as well as the importance of newborn screening programs.

Why is newborn screening important? 

Soon after birth, babies are screened for different diseases to ensure that, if needed, they receive early treatment and the best possible quality of life. This, in turn, saves families from much heartache and potentially a huge financial burden.

I graduated from the University of Georgia in May after spending my senior year as a Child Life Specialist intern at the Children’s Hospital of Georgia, where I worked with children and families in a hospital setting. This means I saw, firsthand, the difference this bill will make for babies born in North Carolina.

Imagine a family having to sacrifice their first child to a rare disease in order to understand what’s wrong so that their future children can be tested and treated for that same disease. It sounds awful, but it’s a painful reality: many parents have multiple children born with a particular rare disease, and they are forced to watch one (or sometimes more than one) son or daughter suffer while younger children receive treatment and live a longer, healthier life.

Imagine being a parent in that situation and knowing the medical community could have done something to help your child, if your child had only been screened for the disease early. To boot, the financial burden of your oldest child’s condition could become long and protracted if they need more advanced treatment as their condition declines and the damage becomes irreversible.

Imagine knowing that all of it could have been easily avoided and changed.

That’s where newborn screening comes into play.

With this move, fewer children and families in North Carolina will suffer from lack of early and appropriate treatment. Families will have more time to get to know each other, do meaningful activities together and watch their children grow, so they can make meaningful contributions to a society that allowed them to live.

Everyone stands to benefit here: the child, the family, our healthcare system and our society.

How did the press conference in North Carolina unfold?

We arrived at the state capitol and headed into a room inside the legislative building, where white coats packed into one side of the room and patients and families filled the other. The middle of the room was reserved for press. I stood with Sharon King, Taylor’s Tale president and Taylor’s mother, and Judy Mayer, a Taylor’s Tale board member, to watch the morning unfold.

Sharon King at press conference

Legislators spoke about newborn screening and their excitement for the addition of these three conditions. This is a happy day, they said — for children, for families and for the state of North Carolina. It doesn’t just affect our state, they said. It will set a new precedent for the way we treat newborns and hopefully create a ripple effect across other states. Another mother of a child with a rare disease also came to the podium to share her experience. While her child received treatment, this mother stressed that it would have been much better if it had happened even a few months earlier.

Despite the excitement around the news, it isn’t without detractors. For example, some members of the media questioned the cost of adding conditions to the newborn screening panel. Wouldn’t this raise the price tag of newborn screening for mothers? Wouldn’t additional screenings require more expensive equipment? What would taxpayers think? How many babies do some of these diseases really affect? What are the numbers? Is it worth it?

This is where I believe it’s important to focus on the big picture. After all, many rare diseases are chronic illnesses that cost a lot of money to treat over the long haul in addition to causing a great deal of pain and suffering for patients and families. Catching these diseases early, so that patients can receive meaningful treatment, is far less costly than dealing with the diseases later. Remember, too, that rare diseases as a whole are far from rare. In fact, in North Carolina alone there are approximately one million rare disease patients.

I look forward to watching this crucial work move forward and feel lucky to have witnessed such a big day. However, I know there we still have a lot to do in order to help the public comprehend and see the big picture. The press conference was a crash course in rare disease advocacy, and more than ever, I understand why we can’t ever give up the fight. I look forward to sharing more from my experiences this summer and hope you’ll join Taylor’s Tale, and me, for the ride.

The Soul of the Playathon

By Laura Edwards

Not long after we learned that my little sister has a rare disorder called Batten disease, my grandmother’s best friend, Polly Greene, opened her heart and the piano studio in her home in Raleigh, N.C. She invited her young students and their families to play music in a relaxed environment on a chilly February afternoon to honor Taylor’s brave fight and raise money for a fledgling organization called Taylor’s Tale.

The playathon Polly founded became an annual event. Her friend and co-chair, Pamela Tsai, took the effort to a local piano shop in its second year, and it’s only continued to grow. Last weekend, the sixth annual playathon brought together 19 teachers and 112 students, whose music and show of support for a peer many of them have never met attracted almost 250 guests on Super Bowl Sunday.

The kids and their teachers raised over $3,000 for our fight against Batten disease, but that’s not what I love most about the playathon. It’s the event’s soul, captured best in the reflections of those who created it and continue to stage it, year after year:

Pamela and studentsThe (kids) who met (Taylor) in the past always want to know how she is doing and if they will see her this year. They understand when I say she can’t travel very well anymore, but they wish that she could. The ones who haven’t met her want to know all about her…how old she is, what she can do, would she hear them if they played? They really do seem to know who they are playing for and why. Sometimes, students will tell me that they saw someone else at their school in one of the (Taylor’s Tale) t-shirts and went and talked to them. It seems clear the playathon is more than just another activity to them.

At Hopper (Piano & Organ Company) a little girl of about 7 emptied her change purse…that likely accounts for the 55 cents (in the final amount raised). I thought that was very cute.

-Pamela Tsai

Polly and studentsThe playathon offers an opportunity for young people to use their music to give back – to reach out – to help someone else. I watched the students come into the different venues – music in hand, parents and friends by their sides, smiles on their faces – all because they are playing music and not thinking about themselves. Some are dressed to the nines and some in casual clothes, but they come, and they come willingly. They come to play for Taylor.

There must be something freeing for them to know that each note they play is for Taylor and for others like her; to know that by giving up a few minutes of their weekend, someone else might get better or at least be encouraged.

But a look at the parents’ and students’ faces also reveals a lot. At recitals, you see parents and children come in, (and you notice) some signs of stress on their faces, some worried brows over whether their child will play well and slumped shoulders of some students who know they did not practice enough. But at the playathon, parents and students come in relaxed, smiling and talking with each other, all knowing it is going to be a fun afternoon – they can play pieces they like – they can use their music – and they are sharing the stage with students of other teachers, all for a great cause.

It is also a window into the styles of fellow teachers – you see them as they relate to their students – how they encourage them and talk with them – how the students look to their teachers for encouragement and acceptance and a nod that they did well. This is something private piano teachers do not get to experience, because we are all teaching in our own studios; how nice it is to be able to interact with other teachers and their students. It is rare for this to happen – especially when all are there for a common cause, and it does not involve competitions or contests.

And finally – here are some pictures that stick in my mind:

The 6-year-old who is so shy, she will not speak up at school but will go up on a stage in front of strangers to play for Taylor, and the surprised look on her parents’ faces as she does so with confidence.

The 9-year-old girl who brings her own entourage of friends – all dressed in their Sunday best and acting like they are at the best music show in town.

The young girl dressed in a purple skirt with net and stars befitting the best ballerina in town and her pink cowboy boots.

The teacher whose students all come dressed in purple for Taylor – and when you look closer, most of the parents are in purple, too.

The father of a new student who has only had a few lessons – worried about how well she is doing – then seeing his beaming face as he watches her play her pieces – he knows she is doing just fine.

The look on the face of the father of a teenaged boy who goes to the stage – hat on his head, dressed in casual clothes and playing his own version of his pieces – change from interest, to pride, to a broad smile and then a shake of his head in wonderment.

The student with autism who has found a love of music but is wary of playing and anxious about going up to the piano, but he does it for Taylor – and he is proud of himself when he is done.

The store owners who graciously donate their recital halls for Taylor – and then you see them go over and put a donation into the basket.

The look on the face of Taylor’s grandfather as he sits on the front row listening to student after student play for his granddaughter.

It is an afternoon with little stress for the students – an afternoon of music – an afternoon of students supporting and encouraging each other – an afternoon of teachers sharing a musical experience with each other – an afternoon for Taylor.

-Polly Greene

Thanks to all those who attended the event and gave to Taylor’s Tale, from parents and grandparents to others who had no children playing but came to support our cause anyway. Thanks also to Hopper Piano & Organ Company, Maus Piano and Organ and Ruggero Piano for donating space for this wonderful event once again. Finally, thanks to Polly, Pamela and all of the teachers and students whose selfless love and dedication help us get closer to beating this disease each year.

Watch a UNC-TV feature story about the playathon

Fat Daddy’s Charity Night

By Laura Edwards

Just a reminder that Fat Daddy’s Bar & Grill of Raleigh, NC will host a charity night to benefit Taylor’s Tale on Tuesday, Nov. 17 from 5-11 p.m. If you live in the Triangle area and can make it out to Fat Daddy’s that evening, you’ll be supporting the three research projects Taylor’s Tale helped make possible for 2009-2010. Just mention Taylor’s Tale when you place your order, and the restaurant will donate 10 percent of the proceeds from your purchase to our organization.

Fat Daddy’s is a local favorite in the Crabtree Valley area of Raleigh, located at 6201 Glenwood Ave. The restaurant offers everything from custom-built burgers to pool tables and a huge beer selection.
For more information about this and other upcoming events, check out our website or Facebook page. Hope to see you soon!